A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2156736



Internal ID17818256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:53284251..53285332hg38UCSC Ensembl
Innerchr19:53787504..53788585hg19UCSC Ensembl
Innerchr19:58479316..58480397hg18UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg381082
hg191082
hg181082
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv963076
Supporting Variants
SamplesHGDP00927
Known GenesFAM90A27P
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2156736
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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